ORPHA:109
Bannayan-Riley-Ruvalcaba syndrome
Synonyms: BRRS · Myhre-Riley-Smith syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare developmental defect during embryogenesis characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bannayan-Riley-Ruvalcaba syndrome | BRRS · Myhre-Riley-Smith syndrome |
| fr | Syndrome de Bannayan-Riley-Ruvalcaba | BRRS · Syndrome de Myhre-Rikey-Smith |
| de | Bannayan-Riley-Ruvalcaba-Syndrom | BRRS · Myhre-Riley-Smith-Syndrom |
| es | Síndrome de Bannayan-Riley-Ruvalcaba | BRRS · Síndrome de Myhre-Riley-Smith |
| it | Sindrome di Bannayan-Riley-Ruvalcaba | BRRS · Sindrome di Myhre-Riley-Smith |
| nl | Syndroom van Bannayan-Riley-Ruvalcaba | BRRS · Syndroom van Myhre-Riley-Smith |
| pt | Síndrome Bannayan-Riley-Ruvalcaba | Síndrome Myhre-Riley-Smith |
| pl | Zespół Bannayana, Riley'a i Ruvalcaba | BRRS · Zespół de Myhre, Rikey'a i Smitha · Zespół Myhre, Riley'a i Smitha |
| cs | Bannayanův-Rileyův-Ruvalcabaův syndrom | BRRS · Myhreho-Rileyův-Smithův syndrom · Bannayan-Riley-Ruvalcabaův syndrom · Myhre-Riley-Smithův syndrom |
| uk | Синдром Баннаяна-Райлі-Рувалькаба | BRRS · Синдром Міхре-Рейлі-Сміта |
| zh | Bannayan-Riley-Ruvalcaba综合征 | Myhre-Riley-Smith综合征 |
| tr | Bannayan-Riley-Ruvalcaba sendromu | BRRS · Myhre-Riley-Smith sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 158350 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2D.Y | NTBT | index | validated |
| MONDO | 0007924 | E | validated | |
| UMLS | C0265326 | E | validated | |
| GARD | 5887 | E | validated | |
| MedDRA | 10080314 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:363314Genetic intestinal polyposis
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:104010Intestinal polyposis syndrome
rare gastroenterological diseases; rare genetic diseases; rare neoplastic diseases; rare transplant-related disorders - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:306498PTEN hamartoma tumor syndrome
rare developmental anomalies during embryogenesis; rare gastroenterological diseases; rare genetic diseases; rare skin diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PTEN | Disease-causing germline mutation(s) in | Assessed | HGNC:9588 | ENSG00000171862 | 601728 | 10q23.31 | phosphatase and tensin homolog | 20301661[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
55 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002250 | Abnormal large intestine morphology | |
| HP:0100026 | Arteriovenous malformation | |
| HP:0005306 | Capillary hemangioma | |
| HP:0004390 | Hamartomatous polyposis | |
| HP:0200008 | Intestinal polyposis | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0012032 | Lipoma | |
| HP:0000256 | Macrocephaly | |
| HP:0100013 | Neoplasm of the breast | |
| HP:0003764 | Nevus | |
| HP:0004322 | Short stature | |
| HP:0100761 | Visceral angiomatosis | |
| Frequent (79-30%) | ||
| HP:0000767 | Pectus excavatum | |
| HP:0002650 | Scoliosis | |
| HP:0001933 | Subcutaneous hemorrhage | |
| HP:0001482 | Subcutaneous nodule | |
| Occasional (29-5%) | ||
| HP:0009023 | Abdominal wall muscle weakness | |
| HP:0000587 | Abnormal optic nerve morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001681 | Angina pectoris | |
| HP:0000463 | Anteverted nares | |
| HP:0004942 | Aortic aneurysm | |
| HP:0011304 | Broad thumb | |
| HP:0004326 | Cachexia | |
| HP:0000965 | Cutis marmorata | |
| HP:0002194 | Delayed gross motor development | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000268 | Dolichocephaly | |
| HP:0002007 | Frontal bossing | |
| HP:0000872 | Hashimoto thyroiditis | |
| HP:0001943 | Hypoglycemia | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0002170 | Intracranial hemorrhage | |
| HP:0001382 | Joint hypermobility | |
| HP:0000343 | Long philtrum | |
| HP:0001004 | Lymphedema | |
| HP:0002665 | Lymphoma | |
| HP:0000400 | Macrotia | |
| HP:0002858 | Meningioma | |
| HP:0000347 | Micrognathia | |
| HP:0007565 | Multiple cafe-au-lait spots | |
| HP:0001324 | Muscle weakness | |
| HP:0003198 | Myopathy | |
| HP:0000189 | Narrow palate | |
| HP:0002664 | Neoplasm | |
| HP:0100641 | Neoplasm of the adrenal cortex | |
| HP:0001250 | Seizure | |
| HP:0003196 | Short nose | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0000098 | Tall stature | |
| HP:0001009 | Telangiectasia | |
| HP:0002890 | Thyroid carcinoma | |
| HP:0010784 | Uterine neoplasm | |
| HP:0000445 | Wide nose | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/109
- This record as JSON: /data/d/109.json